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Acta Neuropathol 2019 Apr 5. Epub 2019 Apr 5.

Department of Pathology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Bader 104, Boston, MA, 02115, USA.

DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the sequence encoding the RNase IIIb domain. DICER1 encodes a member of the microRNA biogenesis machinery. Read More

Zhonghua Bing Li Xue Za Zhi 2019 Mar;48(3):251-253

Department of Pathology, Chengde Center Hospital, Hebei Province, Chengde 067000, China.

Respir Med Case Rep 2019 16;26:276-280. Epub 2019 Feb 16.

Department of Pathology and Laboratory Medicine, King Hussein Cancer Center, Jordan.

Mucinous cystic neoplasm of the lung is a rare well known entity in the WHO classification of lung tumors. It is defined as "a localized cystic mass filled with mucin and surrounded by a fibrous wall lined by well-differentiated columnar mucinous epithelium." The presence of ovarian-like stroma is not mentioned in this definition. Read More

Ann Thorac Surg 2019 Feb 27. Epub 2019 Feb 27.

Department of Pathology, Strasbourg University Hospital, 1 Place de l'Hopital, 67000, Strasbourg, France.

We report an unusual case of a 53-year-old woman who presented with multiple lung cystic lesions presumed to be related to pulmonary hydatidosis, treated and followed for 3 years before surgical removal was decided. Unexpectedly, pathological findings showed the presence of benign spindle cell proliferation. Immunohistochemical staining confirmed the smooth muscle nature of the spindle cells which were also positive for hormonal receptors and corresponded to multiple cystic pulmonary hamartomas. Read More

An Bras Dermatol 2019 Jan-Feb;94(1):76-78

Department of Pathology, Laboratório Bacchi, Botucatu (SP), Brazil.

Cutaneous metastases are uncommon in daily practice, although very important, since they may be the first manifestation of an undiscovered primary neoplasm or the first indication of recurrence. Cutaneous metastases from the breast are the most frequent in women and cutaneous metastases from the lung are the most frequent in men. Thyroid carcinoma, despite representing the most frequent endocrine neoplasm, is considered a rare neoplasm, corresponding to 1% of malignant neoplasms diagnosed. Read More

Rare Tumors 2019 10;11:2036361318823926. Epub 2019 Jan 10.

Department of Surgery, Shiraz University of Medical Sciences, Shiraz, Iran.

Hamartoma of lung is a common tumor, majority of which are small and incidentally discovered during plain chest radiography. Our case is a 30-year-old gentleman with an extremely uncommon presentation of a common tumor, that is, a giant hamartoma of lung presenting as massive hemoptysis and intractable cough. To the best of our knowledge, such occurrence of giant pulmonary hamartoma is very uncommon and its presentation with massive hemoptysis is even more uncommon. Read More

Tuberk Toraks 2018 Dec;66(4):312-316

Clinic of Interventional Pulmonology, Ankara Ataturk Chest Diseases and Chest Surgery Training and Research Hospital, Ankara, Turkey.

Introduction: Recently, treatment of endobronchial hamartomas with interventional bronchoscopic methods has become possible. Although there are several reports of therapeutic benefits, the protocol of administration varies between centers and high recurrence rates continue to be a problem. In this study, we aimed to show that cryotherapy applied to the root of the bronchial wall after removal of the intraluminal portion of endobronchial hamartoma with interventional bronchoscopic methods can prevent recurrences. Read More

Zhonghua Jie He He Hu Xi Za Zhi 2019 Jan;42(1):15-19

Department of Respiratory and Critical Medicine, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China.

To analyze the clinical manifestations of patients with endobronchial hamartoma(EH),and therefore to improve understanding of the disease. Data were retrospectively reviewed to describe the clinical characteristics, diagnosis procedures and prognosis of EH, including 5 patients in Beijing Anzhen Hospital, Capital Medical University from Jun 2007 to Feb 2018 and another 159 patients from Chinese and English literatures published after Jan 2000. The five patients, 4 males and 1 female, aged from 46 to 69 years[mean (56±7) years], were diagnosed with EH in our hospital. Read More

Ann Thorac Surg 2018 Dec 7. Epub 2018 Dec 7.

Department Pulmonary and Critical Care Medicine, Lankenau Medical Center. 100 Lancaster Avenue, Wynnewood, PA 19096. Electronic address:

A 49 year old female presented after a respiratory infection with a abnormal chest X-ray demonstrating a cystic calcified mass at the base of the right lung. Chest CT angiogram demonstrated the blood supply arose from the abdominal aorta. This Extralobar sequestration was surgically resected via Video assisted thoracoscopy without complication. Read More

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage. Read More

Lung India 2018 Nov-Dec;35(6):530-531

Department of Intervention and Diagnostic Radiology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Eur J Obstet Gynecol Reprod Biol 2018 Dec 10;231:93-97. Epub 2018 Oct 10.

Department of Gynecology, National Cancer Center Hospital, Tokyo 104-0045, Japan.

Objectives: Incidentally discovered lymphangioleiomyomatosis (LAM) in sampled lymph nodes are infrequent but intractable issues for gynecologists. The aims of this study were to elucidate the prevalence of incidental nodal LAM in a consecutive cohort of gynecologic surgical specimens from Japanese patients, to document clinicopathological features of nodal LAM cases, and to investigate the association between the subsequent development of pulmonary LAM and tuberous sclerosis complex (TSC).

Study Design: We retrospectively reviewed 1732 consecutive Japanese patients who underwent gynecologic surgery with lymph node sampling in the National Cancer Center Hospital between January 2004 and April 2017. Read More

AME Case Rep 2017 26;1. Epub 2017 Sep 26.

Department of Pathology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China.

A 48-year-old woman was admitted for pectoralgia and dyspnea. Tomography revealed a giant lung bulla with a mass arose from the bulla wall in the left lower lobes, and left lower lobes pulmonary wedge resection was performed through video-assisted thoracic surgery (VATS). The giant bulla was formed by fibrous connective tissue covered by monolayer pavement epithelium. Read More

Int J Surg Case Rep 2018 12;51:272-274. Epub 2018 Sep 12.

Division of Thoracic Surgery, Monaldi Hospital, Leonardo Bianchi Street, 80131, Naples, Italy.

Introduction: Most hamartomas are located peripherally in the lung parenchyma and are rarely identified as an endobronchial lesion. Clinically patients with an endobronchial hamartoma are often symptomatic and may present with various symptoms including: fever, wheezing, hemoptysis and obstructive pneumonia.

Case Presentation: A 68-year-old man presented with complaints of fever and cough for 1 month. Read More

J Thorac Imaging 2018 Nov;33(6):W48-W50

Mayo Clinic, Rochester, MN.

Objective: To describe the pulmonary imaging findings in patients with Cowden syndrome (CS).

Materials And Methods: A retrospective review identified all patients with CS who underwent dedicated computed tomography examinations of the chest at our institution between January 2000 and October 2017. Patient demographics and imaging characteristics were identified through a review of the electronic medical record and relevant imaging. Read More

Respir Med Case Rep 2018 14;25:133-136. Epub 2018 Aug 14.

Division of Pulmonology, Spedali Civili of Brescia, Brescia, Italy.

Pulmonary hamartoma (PH) is the most common benign tumor of the lung, typically presenting as a peripheral solitary nodule with round shape and smooth margins. The main computed tomography (CT) features that allow a confident diagnosis of PH are intranodular fat and popcorn-like calcifications. However, the presence of these features within PHs is variable. Read More

BMC Med Genet 2018 08 15;19(1):144. Epub 2018 Aug 15.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstr. 7, 72076, Tübingen, Germany.

Background: The PTEN-hamartoma-tumor-syndrome (PHTS) is caused by germline mutations in Phosphatase and Tensin homolog (PTEN) and predisposes to the development of several typical malignancies. Whereas PTEN mutations have been implicated in the occurrence of malignant mesotheliomas, the genetic landscape of verrucous carcinomas (VC) is largely uncharted. Both VC and malignant peritoneal mesotheliomas (MPM) are exceedingly rare and a potential link between these malignancies and PHTS has never been reported. Read More

An Bras Dermatol 2018 Jun;93(3):323-331

Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. Read More

J Bronchology Interv Pulmonol 2018 Oct;25(4):290-299

Pathology and Laboratory Institute, Cleveland Clinic, Cleveland, OH.

Background: The value of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the mediastinal staging of lung cancer has been well established. However, data regarding its utility in the diagnosis of intrapulmonary lesions has been sparse. This study assesses the sampling utility of convex probe EBUS-visible intrapulmonary lesions not visualized by the white-light bronchoscopy. Read More

BMC Med Genet 2018 05 30;19(1):90. Epub 2018 May 30.

Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, People's Republic of China.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagnosis of TSC is established with a recently revised clinical/radiological set of criteria and/or a causative mutation in TSC1 or TSC2 gene.

Case Presentation: We report a Chinese TSC family with two siblings presenting with multiple hypomelanotic macules, cardiac rhabdomyomas and cortical tubers associated with a small subependymal nodule. Read More

Pathol Int 2018 Jul 16;68(7):431-435. Epub 2018 May 16.

Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

Pulmonary hamartoma (PH) is the most common benign lung tumor, comprising various amounts of mescenchymal components with entrapped epithelial components. We describe an unusual case of PH in the left lower lung lobe of a 60-year-old female. The tumor was 9 × 9 mm in size, light brown, weakly glistening, and microscopically found to be composed of well-developed epithelial and mesenchymal components without atypia. Read More

Medicine (Baltimore) 2018 May;97(18):e0661

Department of Pathology, the First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, China.

Rationale: Placental transmogrification of the lung is a very rare lesion which was characterized by the presence of papillae resembling placental villi. Its pathogenesis still remains unclear. Some authors think that this lesion is congenital and related to hamartoma, and others advocate it is secondary change after emphysema. Read More

Kardiochir Torakochirurgia Pol 2018 Mar 28;15(1):1-4. Epub 2018 Mar 28.

Thoracic Surgery Department, Faculty of Medicine, Ege University, Izmir, Turkey.

Introduction: There are many diseases which, despite not being malignant, show high metabolic activity and cause false-positive results.

Aim: To evaluate the results of positron emission tomography (PET) in patients who underwent resection after preliminary diagnosis of malignancy based on fluorodeoxyglucose (FDG) uptake value, in whom the lesions were later classified as pathologically benign.

Material And Methods: The analysis included the records of 106 (12. Read More

Asian Cardiovasc Thorac Ann 2018 May 12;26(4):317-319. Epub 2018 Apr 12.

Department of Thoracic Surgery, 13622 JR Tokyo General Hospital , Tokyo, Japan.

Pulmonary inflammatory myofibroblastic tumor is a rare disease. Computed tomography in a 54-year-old woman showed a mass compressing the segmental bronchus of the left lung. Bronchoscopy indicated a mesenchymal tumor, hamartoma, or inflammatory myofibroblastic tumor. Read More

Tokai J Exp Clin Med 2018 Apr 20;43(1):1-4. Epub 2018 Apr 20.

Department of Pathology, Tokai University School of Medicine,143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan.

Pulmonary hamartoma (PH) is usually a solid mass of less than 4 cm in size that contains cartilage omponents. A 44-year-old Japanese woman received surgical resection of a well-demarcated cystic tumor in the right lung. Resected tissue contained a 13 × 10 × 8 cm-sized solid mass with a prominent unilocular cyst (8 × 6. Read More

Acta Clin Croat 2017 Dec;56(4):808-811

Jordanovac University Department of Thoracic Surgery, Zagreb University Hospital Center, Zagreb, Croatia.

Pulmonary hamartoma is the most common benign tumor of the lung. It accounts for 77% of all benign lung tumors but less than 1% of all lung tumors. Malignant alteration is -extremely rare. Read More

Orphanet J Rare Dis 2018 03 27;13(1):43. Epub 2018 Mar 27.

Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuaifuyuan Road, Beijing, 100730, China.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which is a leading cause of TSC-related death in adult patients. The aim of the study was to evaluate the efficacy and safety profiles of everolimus in Chinese patients of TSC associated with RAML(TSC-RAML). Read More

Monaldi Arch Chest Dis 2018 02 7;88(1):890. Epub 2018 Feb 7.

North Bristol Lung Centre, Southmead Hospita.

We report a case of a 68-year-old gentleman, found to have a right hilar soft tissue mass whilst undergoing CT staging for prostate cancer. MRI imaging showed a heterogenous, enhancing solid mass without evidence of fat content. A linear probe endobronchial ultrasound-guided transbronchial needle aspiration was performed using a 19G needle. Read More

Lung India 2018 Mar-Apr;35(2):179-181

Centre for Chest Surgery, Sir Ganga Ram Hospital, New Delhi, India.

Kyobu Geka 2018 Feb;71(2):142-145

Division of Chest Surgery, Department of Surgery, Showa University School of Medicine, Tokyo, Japan.

A 65-year-old male was admitted to our hospital for evaluation of an abnormal shadow in the left lung field of chest roentgenogram. A chest computed tomography scan revealed an ill-defined nodule in the superior lingular segment of left lung and a calcified nodule in the left pulmonary apex region. A diagnosis of lung adenocarcinoma in the left lingular was made by transbronchial cytology and the left upper lobectomy with lymph node dissection was performed. Read More

Pathol Res Pract 2018 03 2;214(3):459-462. Epub 2018 Jan 2.

Department of Pathology, The Catholic University of Korea, Seoul, Republic of Korea; Department of Cancer Evolution Research Center, The Catholic University of Korea, Seoul, Republic of Korea; Department of Precision Medicine Research Center, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address:

Handb Clin Neurol 2018 ;148:813-822

Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, United States. Electronic address:

Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are inactivating, leading to loss-of-function effects on the encoded proteins, TSC1 and TSC2. Read More

AJR Am J Roentgenol 2018 03;210(3):W132

4 National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.

AJR Am J Roentgenol 2018 03;210(3):W131

1 Cincinnati Children's Hospital Medical Center, Cincinnati, OH

CMAJ 2018 02;190(6):E167

Department of Medicine (Simon), Maimonides Medical Center, Brooklyn, NY; McMaster University (Zukotynski), Hamilton, Ont.; Department of Radiology & Biomedical Imaging (Naeger), University of California, San Francisco, Calif.

Turk Thorac J 2017 Jul 1;18(3):82-87. Epub 2017 Jul 1.

Clinif of Chest Diseases, Süreyyapaşa Chest Diseases and Chest Surgery Training and Research Hospital, İstanbul, Turkey.

Objectives: Organizing pneumonia (OP) is an interstitial lung disease characterized by granulation tissue buds in alveoli and alveolar ductus, possibly accompanied by bronchiolar involvement. Histopathologically, OP may signify a primary disease and be observed as a contiguous disease or as a minor component of other diseases. In this study, the clinical significance of histopathological OP lesions and clinical and radiological features of patients with primary OP were examined. Read More

Respiration 2018;95(5):310-316. Epub 2018 Jan 24.

First Department of Medicine, Hokkaido University School of Medicine, Sapporo, Japan.

Background: Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of tuberous sclerosis complex (TSC). Because of its rarity, no previous study has described the detailed clinical course of this disease.

Objectives: This study aimed to clarify the longitudinal clinical characteristics of subjects with MMPH. Read More

Clin Cancer Res 2018 May 17;24(10):2251-2261. Epub 2018 Jan 17.

Department of Pathology, Center for Cancer and Immunology Research, Children's National Medical Center, Washington D.C.

Pathogenic germline variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma, and brain tumors including pineoblastoma and pituitary blastoma. In May 2016, the International PPB Registry convened the inaugural International Symposium to develop consensus testing and surveillance and treatment recommendations. Read More

J Am Acad Dermatol 2018 04 16;78(4):717-724. Epub 2017 Dec 16.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland. Electronic address:

Background: Fibrous cephalic plaques (FCPs) stereotypically develop on the forehead of patients with tuberous sclerosis complex (TSC). They constitute a major feature for TSC diagnosis and may present before other TSC-related cutaneous hamartomas.

Objective: To describe the clinical characteristics of FCPs in TSC. Read More

Medicine (Baltimore) 2017 Dec;96(49):e9085

aDepartment of Respiratory and Critical Care Medicine, Jiangxi Provincial People's HospitalbDepartment of Cardiology, the Second Affiliated Hospital of Nanchang UniversitycDepartment of Pathology, Jiangxi Provincial People's Hospital, Nanchang, China.

Rationale: Endobronchial hamartoma, the most common benign lung tumor, is located in the bronchus, and it easily mimics lung cancer or bronchial metastasis. Endobronchial hamartoma can cause coughing, hemoptysis, and pulmonary infection; thus, it should be treated right away by surgery or fiberoptic bronchoscopy.

Patient Concerns: We report a rare case of endobronchial hamartoma in which the clinical symptoms and imaging overlapped strongly with malignant lung tumor contralateral endobronchial metastasis. Read More

Ther Adv Respir Dis 2017 12;11(12):435-438

Respiratory Department, The First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, 215006, China.

We present a rare case of giant endobronchial hamartoma coexisting with lung atelectasis for more than 3 years. The small specimen initially biopsied via bronchoscope did not reveal tissue features, but some features were suspicious for squamous cell carcinoma. The lesion was removed completely using snare electrocautery combined with argon plasma coagulation via flexible fiberoptic bronchoscopy. Read More

Nat Commun 2017 11 29;8(1):1848. Epub 2017 Nov 29.

Department of Immunotherapeutics and Biotechnology, School of Pharmacy, Texas Tech University Health Science Center, 1718 Pine Street, Abilene, TX, 79601, USA.

Differentiation abnormalities are a hallmark of tuberous sclerosis complex (TSC) manifestations; however, the genesis of these abnormalities remains unclear. Here we report on mechanisms controlling the multi-lineage, early neuronal progenitor and neural stem-like cell characteristics of lymphangioleiomyomatosis (LAM) and angiomyolipoma cells. These mechanisms include the activation of a previously unreported Rheb-Notch-Rheb regulatory loop, in which the cyclic binding of Notch1 to the Notch-responsive elements (NREs) on the Rheb promoter is a key event. Read More

Respiration 2017 23;94(6):467-485. Epub 2017 Nov 23.

Cystic lung diseases constitute a distinct group of rare lung disorders, among which two result from monogenic defects affecting tumor suppressor genes: lymphangioleiomyomatosis, either sporadic or associated with tuberous sclerosis complex, and Birt-Hogg-Dubé syndrome. These disorders have similarities in their clinical expression, including occurrence in young adults, multiple pulmonary cysts, recurrent pneumothorax, skin hamartomas, and renal tumors. However, they markedly differ in their gender distribution, pathogenesis, disease course, and prognosis. Read More

Oncotarget 2017 Oct 28;8(49):86897-86907. Epub 2017 Jul 28.

Department of Oncology, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, PR China.

Various studies have demonstrated the diagnostic value of microRNA (miRNA) for lung cancer, but miRNA signatures varied between different subtypes. Whether serum miRNAs could be used as biomarkers in lung squamous cell carcinoma (SCC) remains unknown. Using quantitative real-time polymerase chain reaction (qRT-PCR) based Exiqon panel, 38 differentially expressed miRNAs were identified from 3 male lung SCC pool samples and 1 normal control (NC) pool in the initial screening phase. Read More

Chin Med J (Engl) 2017 Oct;130(20):2510-2512

Department of Respiratory Medicine, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, China.

Autops Case Rep 2017 Jul-Sep;7(3):44-49. Epub 2017 Sep 30.

St. John Hospital and Medical Center, Department of Pathology. Detroit, MI, USA.

Pulmonary placental transmogrification (PT) is a rare entity with less than 40 cases reported in the literature. Most reported cases are associated with either bullous emphysema or with pulmonary fibrochondromatous hamartomas. We present only the second case of PT associated with adenocarcinoma of the lung. Read More

Medicine (Baltimore) 2017 Oct;96(40):e8231

aDepartment of Radiology, Panyu Central Hospital of Guangzhou, Guangzhou, P.R. China bDepartment of Radiology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, P.R. China cDepartment of Radiology, Keck Medical Center of USC, Los Angeles, CA.

Rationale: Pulmonary hamartomas are the most common benign tumor of the lung. Two types of pathologically similar hamartomas exist based on their location. These tumors have a low incidence, are rarely reported and frequently misdiagnosed because of lack of familiarity and/or understanding concerning their imaging features. Read More

Respir Med Case Rep 2017 14;22:254-256. Epub 2017 Sep 14.

Institute of Pathology, University of Zagreb, Šalata 10, Zagreb, Croatia.

Pulmonary myelolipoma is a very rare benign tumor composed of mature adipose tissue and hematopoietic elements such as erythroid, myeloid and megakaryocytic. It usually represents accidental finding during autopsy or chest imaging, since most cases are asymptomatic. Larger masses can lead to hemorrhage, chest pain and chest organ compression. Read More